Entry Search - 150230 190350 604386 606462 608177

Search: '150230 190350 604386 606462 608177 (Search in: MIM number)'

Results: 5 entries.

# 150230. TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
Cytogenetic location: 8q24.11-q24.13, Genomic coordinates (GRCh38): 8:116,700,001-126,300,000
Matching terms: 150230
► Gene-Phenotype Relationships ► Phenotypic Series ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q24.11-q24.13	Trichorhinophalangeal syndrome, type II	150230	AD	4

▲ Close

Trichorhinophalangeal syndrome - PS190350 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
8q23.3	Trichorhinophalangeal syndrome, type I	AD	3	190350	TRPS1	604386
8q23.3	Trichorhinophalangeal syndrome, type III	AD	3	190351	TRPS1	604386
8q24.11-q24.13	Trichorhinophalangeal syndrome, type II	AD	4	150230	TRPS2	150230

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 41069008 ORPHA: 502 DO: 4998

▲ Close

* 608177. EXOSTOSIN GLYCOSYLTRANSFERASE 1; EXT1
Cytogenetic location: 8q24.11, Genomic coordinates (GRCh38): 8:117,794,490-118,111,826
Matching terms: 608177
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q24.11	Chondrosarcoma	215300	SMu	3
8q24.11	Exostoses, multiple, type 1	133700	AD	3

▲ Close

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 1163016002, 254044004, 443520009 ICD10CM: Q78.6

▲ Close

# 190350. TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
Cytogenetic location: 8q23.3
Matching terms: 190350
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
8q23.3	Trichorhinophalangeal syndrome, type I	190350	AD	3	TRPS1	604386

▲ Close

Trichorhinophalangeal syndrome - PS190350 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
8q23.3	Trichorhinophalangeal syndrome, type I	AD	3	190350	TRPS1	604386
8q23.3	Trichorhinophalangeal syndrome, type III	AD	3	190351	TRPS1	604386
8q24.11-q24.13	Trichorhinophalangeal syndrome, type II	AD	4	150230	TRPS2	150230

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 254091006 ORPHA: 77258 DO: 14743

▲ Close

* 604386. TRANSCRIPTIONAL REPRESSOR, GATA-BINDING 1; TRPS1
Cytogenetic location: 8q23.3, Genomic coordinates (GRCh38): 8:115,408,496-115,668,975
Matching terms: 604386
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q23.3	Trichorhinophalangeal syndrome, type I	190350	AD	3
8q23.3	Trichorhinophalangeal syndrome, type III	190351	AD	3

▲ Close

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

ICD+
SNOMEDCT: 254091006

▲ Close

* 606462. RAD21 COHESIN COMPLEX COMPONENT; RAD21
Cytogenetic location: 8q24.11, Genomic coordinates (GRCh38): 8:116,845,934-116,874,776
Matching terms: 606462
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q24.11	?Mungan syndrome	611376	AR	3
8q24.11	Cornelia de Lange syndrome 4	614701	AD	3

▲ Close

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00000591 WBGene00004737 ZFin	Cellular Pathways KEGG Reactome

▲ Close

Search: 150230 190350 604386 606462 608177 (Search in: MIM number)

Results: 5 entries.

# 150230. TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
Cytogenetic location: 8q24.11-q24.13, Genomic coordinates (GRCh38): 8:116,700,001-126,300,000
Matching terms: 150230

* 608177. EXOSTOSIN GLYCOSYLTRANSFERASE 1; EXT1
Cytogenetic location: 8q24.11, Genomic coordinates (GRCh38): 8:117,794,490-118,111,826
Matching terms: 608177

# 190350. TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
Cytogenetic location: 8q23.3
Matching terms: 190350

* 604386. TRANSCRIPTIONAL REPRESSOR, GATA-BINDING 1; TRPS1
Cytogenetic location: 8q23.3, Genomic coordinates (GRCh38): 8:115,408,496-115,668,975
Matching terms: 604386

* 606462. RAD21 COHESIN COMPLEX COMPONENT; RAD21
Cytogenetic location: 8q24.11, Genomic coordinates (GRCh38): 8:116,845,934-116,874,776
Matching terms: 606462

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025